ClinVar Miner

Submissions for variant NM_014112.5(TRPS1):c.1464_1474del (p.Ser489fs)

dbSNP: rs1817986949
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand RCV001248816 SCV001364096 likely pathogenic Trichorhinophalangeal dysplasia type I 2020-06-22 criteria provided, single submitter clinical testing Deletion (11pb) ==> Frameshift in exon 4(/7)

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